Resultados da busca - Thierry Frébourg

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  1. 1
    The Challenge for the Next Generation of Medical Geneticists

    The Challenge for the Next Generation of Medical Geneticists por Thierry Frébourg

    Publicado em 2014
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  2. 2
    Cancer risks from germline p53 mutations.

    Cancer risks from germline p53 mutations. por Thierry Frébourg, Stephen Friend

    Publicado em 1992
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  3. 3
    Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes

    Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes por Thierry Frébourg, Svetlana Lagercrantz, Carla Oliveíra, Rita Mágenheim, D. Gareth Evans

    Publicado em 2020
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  4. 4
    Molecular determinants of anti-EGFR sensitivity and resistance in metastatic colorectal cancer

    Molecular determinants of anti-EGFR sensitivity and resistance in metastatic colorectal cancer por Frédéric Di Fiore, Richard Sesboüé, Pierre Michel, Jean‐Christophe Sabourin, Thierry Frébourg

    Publicado em 2010
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  5. 5
    Early onset hereditary hemochromatosis resulting from a novel <i>TFR2</i> gene nonsense mutation (R105X) in two siblings of north French descent

    Early onset hereditary hemochromatosis resulting from a novel <i>TFR2</i> gene nonsense mutation (R105X) in two siblings of north French descent por Gérald Le Gac, F. Mons, Sandrine Jacolot, Virginie Scotet, Claude Férec, Thierry Frébourg

    Publicado em 2004
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  6. 6
    Genetic Association Studies of Suicidal Behavior: A Review of the Past 10 Years, Progress, Limitations, and Future Directions

    Genetic Association Studies of Suicidal Behavior: A Review of the Past 10 Years, Progress, Limitations, and Future Directions por Bojan Mirkovic, Claudine Laurent, Marc-Antoine Podlipski, Thierry Frébourg, Doron Cohen, Priscille Gérardin

    Publicado em 2016
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  7. 7
    Serum hyaluronate in liver diseases: Study by enzymoimmunological assay

    Serum hyaluronate in liver diseases: Study by enzymoimmunological assay por Thierry Frébourg, Bertrand Delpech, E Bercoff, J Sénant, Philìppe Bertrand, Yves Deugnier, J Bourreille

    Publicado em 1986
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  8. 8
    TP63 gene mutation in ADULT syndrome

    TP63 gene mutation in ADULT syndrome por Jeanne Amiel, Gaëlle Bougeard, Christine Francannet, Valérie Raclin, Arnold Münnich, Stanislas Lyonnet, Thierry Frébourg

    Publicado em 2001
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  9. 9
    Cytoskeleton proteins are modulators of mutant tau-induced neurodegeneration in Drosophila

    Cytoskeleton proteins are modulators of mutant tau-induced neurodegeneration in Drosophila por Olivier Blard, Sébastien Feuillette, Jacqueline Bou, Boris Chaumette, Thierry Frébourg, Dominique Campion, Magalie Lecourtois

    Publicado em 2007
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  10. 10
    APP locus duplication in a Finnish family with dementia and intracerebral haemorrhage

    APP locus duplication in a Finnish family with dementia and intracerebral haemorrhage por Anne Rovelet‐Lecrux, Thierry Frébourg, Hannu Tuominen, Kari Majamaa, Dominique Campion, Anne M. Remes

    Publicado em 2007
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  11. 11
    Early-Onset Brain Tumor and Lymphoma in MSH2-Deficient Children

    Early-Onset Brain Tumor and Lymphoma in MSH2-Deficient Children por Gaëlle Bougeard, Françoise Charbonnier, Alexandre Moerman, Cosette Martin, Marie Madeleine Ruchoux, Nathalie Drouot, Thierry Frébourg

    Publicado em 2003
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  12. 12
    Functional Analysis of a Large set of <i>BRCA2</i> exon 7 Variants Highlights the Predictive Value of Hexamer Scores in Detecting Alterations of Exonic Splicing Regulatory Elements

    Functional Analysis of a Large set of <i>BRCA2</i> exon 7 Variants Highlights the Predictive Value of Hexamer Scores in Detecting Alterations of Exonic Splicing Regulatory Elements por Daniela Di Giacomo, Pascaline Gaildrat, Anna Abulí, Julie Abdat, Thierry Frébourg, Mario Tosi, Alexandra Martins

    Publicado em 2013
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  13. 13
    Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage

    Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage por Yasmine Zerdoumi, Raphaël Lanos, Sabine Raad, Jean‐Michel Flaman, Gaëlle Bougeard, Thierry Frébourg, Isabelle Tournier

    Publicado em 2017
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  14. 14
    Rapid detection of novelBRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments

    Rapid detection of novelBRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments por Federica Casilli, Zorika Christiana Di Rocco, Sophie Gad, Isabelle Tournier, Dominique Stoppa‐Lyonnet, Thierry Frébourg, Mario Tosi

    Publicado em 2002
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  15. 15
    Unusual phenotypic alteration of β amyloid precursor protein (βAPP) maturation by a new Val-715 → Met βAPP-770 mutation responsible for probable early-onset Alzheimer’s disease

    Unusual phenotypic alteration of β amyloid precursor protein (βAPP) maturation by a new Val-715 → Met βAPP-770 mutation responsible for probable early-onset Alzheimer’s disease... por Karine Ancolio, Cécile Dumanchin, Hélène Barelli, Jean‐Marie Warter, Alexis Brice, Dominique Campion, Thierry Frébourg, Frédéric Checler

    Publicado em 1999
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  16. 16
    A rapid PCR fidelity assay

    A rapid PCR fidelity assay por Jean‐Michel Flaman, Thierry Frébourg, Viviane Moreau, Françoise Charbonnier, Cosette Martin, Chikashi Ishioka, Stephen Friend, Richard Iggo

    Publicado em 1994
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  17. 17
    Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools

    Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools por Omar Soukarieh, Pascaline Gaildrat, Mohamad Hamieh, Aurélie Drouet, Stéphanie Baert‐Desurmont, Thierry Frébourg, Mario Tosi, Alexandra Martins

    Publicado em 2016
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  18. 18
    Large‐scale comparative evaluation of user‐friendly tools for predicting variant‐induced alterations of splicing regulatory elements

    Large‐scale comparative evaluation of user‐friendly tools for predicting variant‐induced alterations of splicing regulatory elements por Hélène Tubeuf, Camille Charbonnier, Omar Soukarieh, André Blavier, Arnaud Lefebvre, Hélène Dauchel, Thierry Frébourg, Pascaline Gaildrat, Alexandra Martins

    Publicado em 2020
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  19. 19
    The evaluation of CA 19-9 antigen level in the early detection of pancreatic cancer: A prospective study of 866 patients

    The evaluation of CA 19-9 antigen level in the early detection of pancreatic cancer: A prospective study of 866 patients por Thierry Frébourg, E Bercoff, Nicolas Manchon, J Sénant, Jean-Pierre Basuyau, Pascal Breton, A. Janvresse, P Brunelle, J Bourreille

    Publicado em 1988
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  20. 20
    Metastatic colorectal cancer KRAS genotyping in routine practice: results and pitfalls

    Metastatic colorectal cancer KRAS genotyping in routine practice: results and pitfalls por Aude Lamy, France Blanchard, Florence Le Pessot, Richard Sesboüé, Frédéric Di Fiore, Jessie Bossut, Elodie Fiant, Thierry Frébourg, Jean‐Christophe Sabourin

    Publicado em 2011
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